ClinVar Miner

List of variants studied for hereditary hypophosphatemic rickets by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (12):

Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal recessive hypophosphatemic bone disease
Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Familial X-linked hypophosphatemic vitamin D refractory rickets
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Vitamin D-dependent rickets, type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1010del (p.Glu337fs)
NM_000444.6(PHEX):c.1985_1988dup (p.Asp663delinsGluTer)
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)	rs886041226
NM_000444.6(PHEX):c.419C>A (p.Ser140Ter)
NM_000444.6(PHEX):c.931C>T (p.Gln311Ter)	rs1321395083
NM_000444.6(PHEX):c.985del (p.His329fs)	rs1556025994

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